MAP7

microtubule associated protein 7

Basic information

Region (hg38): 6:136342280-136550819

Links

ENSG00000135525 ∙ NCBI:9053 ∙ OMIM:604108 ∙ HGNC:6869 ∙ Uniprot:Q14244 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MAP7 gene.

• Inborn genetic diseases (38 variants)
• not provided (2 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAP7 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			35	1	1	37
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1			1
non coding			2			2
Total	0	0	37	2	1

Variants in MAP7

This is a list of pathogenic ClinVar variants found in the MAP7 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-136345970-C-T		not specified	Uncertain significance (Apr 28, 2023)
6-136356713-T-G		not specified	Uncertain significance (May 30, 2023)
6-136359846-G-A		not specified	Uncertain significance (Sep 13, 2023)
6-136359847-C-A		not specified	Uncertain significance (Jan 16, 2024)
6-136359992-C-T			Likely benign (Dec 01, 2022)
6-136360707-T-C		not specified	Uncertain significance (Dec 01, 2022)
6-136361016-C-A		not specified	Uncertain significance (Mar 06, 2023)
6-136361039-C-T		not specified	Uncertain significance (Jun 11, 2021)
6-136361063-C-G		not specified	Uncertain significance (Jun 28, 2023)
6-136361088-G-C		not specified	Uncertain significance (Oct 22, 2021)
6-136361111-C-A		not specified	Uncertain significance (Nov 10, 2022)
6-136361112-G-A		not specified	Uncertain significance (Aug 17, 2021)
6-136361127-G-C		not specified	Uncertain significance (Jan 03, 2024)
6-136361138-C-T		not specified	Uncertain significance (Jun 21, 2022)
6-136362564-G-A		not specified	Uncertain significance (Oct 17, 2023)
6-136362565-C-T		not specified	Uncertain significance (Oct 17, 2023)
6-136362636-G-A		not specified	Uncertain significance (Sep 06, 2022)
6-136365843-G-A		not specified	Uncertain significance (Dec 21, 2021)
6-136365855-G-T		not specified	Uncertain significance (Jan 06, 2023)
6-136365974-G-A		not specified	Uncertain significance (Apr 07, 2022)
6-136365986-C-T		not specified	Uncertain significance (Jul 14, 2022)
6-136366336-G-A		not specified	Uncertain significance (Oct 20, 2023)
6-136366339-C-T		not specified	Uncertain significance (Oct 12, 2022)
6-136366354-G-A		not specified	Uncertain significance (Sep 26, 2023)
6-136366364-T-C		not specified	Uncertain significance (Nov 22, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAP7	protein_coding	protein_coding	ENST00000454590	18	208083

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.424	0.576	125728	0	20	125748	0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.703	415	457	0.908	0.0000284	4924
Missense in Polyphen		114	132.21	0.86229		1431
Synonymous	0.583	158	168	0.943	0.00000982	1572
Loss of Function	4.82	10	44.8	0.223	0.00000264	506

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000928	0.0000916
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000331	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Microtubule-stabilizing protein that may play an important role during reorganization of microtubules during polarization and differentiation of epithelial cells. Associates with microtubules in a dynamic manner. May play a role in the formation of intercellular contacts. Colocalization with TRPV4 results in the redistribution of TRPV4 toward the membrane and may link cytoskeletal microfilaments. {ECO:0000269|PubMed:11719555, ECO:0000269|PubMed:8408219, ECO:0000269|PubMed:9989799}.

Recessive Scores

• pRec: 0.129

Intolerance Scores

• loftool: 0.626
• rvis_EVS: 0.49
• rvis_percentile_EVS: 79.62

Haploinsufficiency Scores

• pHI: 0.653
• hipred: Y
• hipred_score: 0.721
• ghis: 0.482

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.628

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Map7
• Phenotype: endocrine/exocrine gland phenotype; immune system phenotype; reproductive system phenotype

Gene ontology

• Biological process: microtubule cytoskeleton organization;response to osmotic stress;establishment or maintenance of cell polarity;protein localization to plasma membrane
• Cellular component: cytosol;microtubule;microtubule associated complex;microtubule cytoskeleton;basolateral plasma membrane;axon;perinuclear region of cytoplasm
• Molecular function: signaling receptor binding;structural molecule activity;protein binding